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Article

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.

International immunology - 30 Sept 2020

Sakata Sonoko, Tsumura Miyuki, Matsubayashi Tadashi, Karakawa Shuhei, Kimura Shunsuke, Tamaura Moe, Okano Tsubasa, Naruto Takuya, Mizoguchi Yoko, Kagawa Reiko, Nishimura Shiho, Imai Kohsuke, Le Voyer Tom, Casanova Jean-Laurent, Bustamante Jacinta, Morio Tomohiro, Ohara Osamu, Kobayashi Masao, Okada Satoshi

Abstract excerpt

Autosomal recessive (AR) complete signal transducer and activator of transcription 1 (STAT1) deficiency is an extremely rare primary immunodeficiency that causes life-threatening mycobacterial and viral infections. Only seven patients from five unrelated families with this disorder have been so far reported. All causal STAT1 mutations reported are exonic and homozygous. We studied a patient with susceptibility to...

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PMID: 32603428
DOI: 10.1093/intimm/dxaa043

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